Motor delay, and Unsteady gait

Diseases related with Motor delay and Unsteady gait

In the following list you will find some of the most common rare diseases related to Motor delay and Unsteady gait that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 15|scar15|salih ataxia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

Other less relevant matches:

Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4H Is also known as cmt4h|charcot-marie-tooth disease, autosomal recessive, type 4h|charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h|charcot-marie-tooth neuropathy, type 4h

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4H

SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56 Is also known as spg56

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56

Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4F Is also known as cmt4f

Related symptoms:

  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4F

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).

INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT Is also known as infantile-onset orofacial-trunk-limbs dyskinesia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT

Medium match DYSTONIA 16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16 Is also known as dyt16|early-onset dystonia parkinsonism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DYSTONIA 16

Top 5 symptoms//phenotypes associated to Motor delay and Unsteady gait

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Unsteady gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Global developmental delay Generalized hypotonia Tremor Peripheral neuropathy Cognitive impairment Seizures Nystagmus Intention tremor Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Difficulty walking Distal sensory impairment Scoliosis Areflexia Pes cavus Distal muscle weakness Decreased motor nerve conduction velocity Waddling gait Peripheral demyelination Steppage gait Dystonia Decreased number of peripheral myelinated nerve fibers Onion bulb formation Truncal ataxia Orofacial dyskinesia Nonprogressive cerebellar ataxia Frequent falls Dyskinesia Cerebellar hypoplasia Gait ataxia Hyporeflexia Limb ataxia Delayed gross motor development Saccadic smooth pursuit Babinski sign Focal-onset seizure Sensory neuropathy Dysmetria Muscular hypotonia of the trunk Delayed social development Broad-based gait Abnormality of movement Feeding difficulties Falls Visual fixation instability Chorea Delayed fine motor development Horizontal nystagmus Oculomotor apraxia Titubation Dysdiadochokinesis Truncal titubation Focal impaired awareness seizure Diffuse cerebellar atrophy Gaze-evoked nystagmus Cerebellar vermis atrophy Abnormal saccadic eye movements Agenesis of cerebellar vermis Vertical nystagmus Cerebral palsy Bradykinesia Brain atrophy Ischemic stroke Limb pain Facial grimacing Lower limb pain Laryngeal dystonia Morphological abnormality of the pyramidal tract Generalized dystonia Limb dystonia Akinesia Postural tremor Language impairment Dysphonia Torticollis Drooling Involuntary movements Poor speech Parkinsonism Stroke Abnormal pyramidal sign Rigidity Dysphagia Gait disturbance Pain Nasogastric tube feeding in infancy Hemiballismus Hyperkinesis Abnormal cerebellum morphology Distal amyotrophy Intellectual disability, mild Generalized neonatal hypotonia Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Hypoplasia of the corpus callosum Spasticity Small hypothenar eminence Distal lower limb muscle weakness Distal lower limb amyotrophy Upper limb muscle weakness CNS hypomyelination Talipes equinovarus Spastic dysarthria Spastic gait Action tremor Clumsiness Cerebellar vermis hypoplasia Neonatal hypotonia Strabismus Postural instability Abnormality of eye movement Abnormality of the eye Intellectual disability, moderate Loss of ability to walk Progressive cerebellar ataxia Peripheral axonal neuropathy Toe walking Tonsillitis Myelin tomacula Hypoglycosylation of alpha-dystroglycan Limb-girdle muscle weakness Ankle contracture Gowers sign Limb-girdle muscular dystrophy Lumbar hyperlordosis Muscular dystrophy Hyperlordosis Elevated serum creatine phosphokinase Intellectual disability, severe Flexion contracture Basal lamina onion bulb formation Lower limb hyperreflexia Vocal cord paresis Sensory ataxia Decreased number of large peripheral myelinated nerve fibers Vocal cord paralysis Foot dorsiflexor weakness Sensory impairment Lower limb muscle weakness Limb muscle weakness Paralysis Skeletal muscle atrophy Abnormal globus pallidus morphology Basal ganglia calcification Retrocollis


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